Case report
CM-AVM syndrome in a neonate: case report and treatment with a novel flow reduction strategy
- † Equal contributors
1 Department of Radiology, Division of Pediatric Radiology Columbia University, New York, NY, USA
2 Department of Pediatrics, Division of Cardiology Columbia University, New York, NY, USA
3 Columbia College of Physicians & Surgeons, New York, NY, USA
4 Department of Dermatology and Pediatrics, Columbia University, New York, NY, USA
5 Department of Pediatrics, Division of Clinical Genetics, Columbia University, New York, NY, USA
6 Department of Radiology, Division of Interventional Neuroradiology, Columbia University, New York, NY, USA
7 Department of Surgery, Division of Cardiothoracic Surgery, Columbia University, New York, NY, USA
8 Department of Surgery, Division of Pediatric Surgery, Columbia University, New York, NY, USA
9 Division of Neonatology, Vassar Brothers Medical Center, Poughkeepsie, NY, USA
Vascular Cell 2012, 4:19 doi:10.1186/2045-824X-4-19
Published: 20 November 2012Abstract
Mutations in the RASA-1 gene underlie several related disorders of vasculogenesis. Capillary malformation-arteriovenous malformation (CM-AVM) is one such entity and was recently encountered in a neonate who demonstrated its clinical and radiologic features. A single mutation in the RASA-1 gene was detected.
A novel flow reduction strategy was employed to a large AVM affecting the patient’s upper limb. The imaging findings, surgical procedure and patient’s improved post-operative state are described.
